Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060499939
rs1060499939
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1060499939
rs1060499939
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1131692230
rs1131692230
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
G 0.700 GeneticVariation CLINVAR

dbSNP: rs121918455
rs121918455
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
G 0.700 CausalMutation CLINVAR

dbSNP: rs1345176461
rs1345176461
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553630279
rs1553630279
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
T 0.700 CausalMutation CLINVAR Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 27915094

2017

dbSNP: rs1553630279
rs1553630279
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
T 0.700 CausalMutation CLINVAR A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. 24668549

2014

dbSNP: rs1553630279
rs1553630279
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
T 0.700 CausalMutation CLINVAR [Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass]. 2614104

1989

dbSNP: rs1554208945
rs1554208945
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555247672
rs1555247672
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555303073
rs1555303073
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555377415
rs1555377415
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
C 0.700 GeneticVariation CLINVAR

dbSNP: rs28934906
rs28934906
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
A 0.700 GeneticVariation CLINVAR Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients. 20031356

2010

dbSNP: rs28934906
rs28934906
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
A 0.700 GeneticVariation CLINVAR Genotype-phenotype correlation in Brazillian Rett syndrome patients. 19722030

2009

dbSNP: rs28934906
rs28934906
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
A 0.700 GeneticVariation CLINVAR Homozygosity for MECP2 gene in a girl with classical Rett syndrome. 17881312

2008

dbSNP: rs28934906
rs28934906
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
A 0.700 GeneticVariation CLINVAR MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. 17089071

2007

dbSNP: rs28934906
rs28934906
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
A 0.700 GeneticVariation CLINVAR Prenatal diagnosis in Rett syndrome. 12065946

2003

dbSNP: rs28934906
rs28934906
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
A 0.700 GeneticVariation CLINVAR Chronic osteomyelitis in patients with sickle cell disease. 10944834

2000

dbSNP: rs28936415
rs28936415
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
A 0.700 CausalMutation CLINVAR

dbSNP: rs564185858
rs564185858
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
A 0.700 CausalMutation CLINVAR

dbSNP: rs606231435
rs606231435
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
T 0.700 CausalMutation CLINVAR

dbSNP: rs61749721
rs61749721
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
A 0.700 CausalMutation CLINVAR

dbSNP: rs756421370
rs756421370
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
TA 0.700 CausalMutation CLINVAR

dbSNP: rs767399782
rs767399782
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
T 0.700 GeneticVariation CLINVAR

dbSNP: rs780533096
rs780533096
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
T 0.700 GeneticVariation CLINVAR